VCL, vinculin, 7414

N. diseases: 105; N. variants: 20
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397517244
rs397517244
10 74072792 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs727504381
rs727504381
10 74097222 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
Cardiovascular Diseases 0.700 1.000 1 2007 2007
dbSNP: rs779488376
rs779488376
10 74095825 frameshift variant A/- del 4.0E-05 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
Cardiovascular Diseases 0.700 1.000 1 2007 2007
dbSNP: rs397517245
rs397517245
10 74074773 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
Cardiovascular Diseases 0.700 0
dbSNP: rs727503738
rs727503738
10 74095654 splice acceptor variant A/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
Cardiovascular Diseases 0.700 0
dbSNP: rs727503741
rs727503741
1.000 0.040 10 74114349 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
Cardiovascular Diseases 0.700 0
dbSNP: rs781036800
rs781036800
10 74111991 frameshift variant CT/- del 1.3E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
Cardiovascular Diseases 0.700 0
dbSNP: rs876657674
rs876657674
10 74074789 frameshift variant -/G delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
Cardiovascular Diseases 0.700 0
dbSNP: rs121917776
rs121917776
0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
Cardiovascular Diseases 0.030 1.000 3 2006 2013